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Primary Immunodeficiency Diseases in Different Age Groups: A Report on 1,008 Cases from a Single Brazilian Reference Center

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Abstract

Primary immunodeficiencies (PIDs) represent a large group of diseases that affect all age groups. Although PIDs have been recognized as rare diseases, there is epidemiological evidence suggesting that their real prevalence has been underestimated. We performed an evaluation of a series of 1,008 infants, children, adolescents and adults with well-defined PIDs from a single Brazilian center, regarding age at diagnosis, gender and PID category according to the International Union of Immunological Societies classification. Antibody deficiencies were the most common category in the whole series (61 %) for all age groups, with the exception of <2-year-old patients (only 15 %). In the >30-year-old group, antibody deficiencies comprised 84 % of the diagnoses, mostly consisting of common variable immunodeficiency, IgA deficiency and IgM deficiency. Combined immunodeficiencies represented the most frequent category in <2-years-old patients. Most congenital defects of phagocytes were identified in patients <5 -years of age, as were the diseases of immune dysregulation, with the exception of APECED. DiGeorge syndrome and ataxia-telangiectasia were the most frequent entities in the category of well-defined syndromes, which were mostly identified in patients <10-years of age. Males represented three-quarters and two-thirds of <2 -years-old and 2-5-years -old patients, respectively, whereas females predominated among the >30-year-old patients. Our data indicated that some PIDs were only detected at early ages, likely because affected patients do not survive long. In addition, our data pointed out that different strategies should be used to search for PIDs in infants and young children as compared to older patients.

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Acknowledgments

The authors are thankful to Dr. Ulysses Dória Filho for his valuable assistance in statistical analysis. Financial support: FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo) – grant 2008/58238-4; CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico) – grant 302647/2011-2; and Institute for Investigation in Immunology-INCT, São Paulo, Brazil.

Conflict of Interest

Authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatrics (Division of Allergy and Immunology and Division of Rheumatology), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil

    Magda Carneiro-Sampaio, Cristina M. A. Jacob, Mayra B. Dorna, Letícia A. Watanabe, Ana Paula Moschione Castro, Antonio C. Pastorino & Clóvis Artur A. Silva

  2. Department of Dermatology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil

    Dewton Moraes-Vasconcelos, Maurício D. Ferreira & Alberto J. S. Duarte

  3. Department of Internal Medicine (Division of Clinical Immunology and Allergy), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil

    Cristina M. Kokron, Myrthes Toledo-Barros, Ana Karolina B. B. Marinho, Luiz V. Rizzo & Jorge E. Kalil

  4. Instituto da Criança – Hospital das Clínicas da FMUSP, Av. Dr. Enéas Carvalho Aguiar, 647, 05403-900, São Paulo, SP, Brazil

    Magda Carneiro-Sampaio

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  1. Magda Carneiro-Sampaio
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  7. Letícia A. Watanabe
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  8. Ana Karolina B. B. Marinho
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Correspondence to Magda Carneiro-Sampaio.

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Carneiro-Sampaio, M., Moraes-Vasconcelos, D., Kokron, C.M. et al. Primary Immunodeficiency Diseases in Different Age Groups: A Report on 1,008 Cases from a Single Brazilian Reference Center. J Clin Immunol 33, 716–724 (2013). https://doi.org/10.1007/s10875-013-9865-6

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  • DOI: https://doi.org/10.1007/s10875-013-9865-6

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